Medics preserve sight in children with rare genetic eye condition in world first
Medics in the UK have become the first in the world to successfully administer a pioneering gene therapy that preserves sight in young children with an extremely rare genetic condition that usually causes blindness in the first few years of life.
The patients, who were essentially blind at birth, can now see shapes, find toys, recognise faces, and in some cases, can even read and write.
The procedure, which takes around an hour, involves injecting healthy copies of the affected gene into the back of one eye to 'kick start' sensitivity.
The condition is so rare that the first children to have the therapy were selected from overseas.
Specialists hope it can be made more widely available in the UK and elsewhere as a licensed treatment.
Four children were selected for the gene therapy by specialists from Moorfields Eye Hospital and UCL Institute of Ophthalmology in 2020.
All had severe retinal dystrophy known as leber congenital amaurosis (LCA), an inherited condition that causes vision loss due to a defect in the AIPL1 gene.
This gene is important for the function of photoreceptors, light-sensing cells in the retina that convert light into electrical signals that the brain interprets as vision.
Professor James Bainbridge, consultant retinal surgeon at Moorfields Eye Hospital and professor of retinal studies at UCL Institute of Ophthalmology, told the PA news agency: 'Typically, they can only distinguish light and dark, and that little sight they will lose within the first few years of life.
'So what we found is that by providing the gene to their eyes that's otherwise lacking, we can substantially improve their sight, and this appears to have a positive impact on their general development.'
The operations were carried out at Great Ormond Street Hospital in London, with medics performing keyhole surgery on patients aged between one and two to access the eye.
Healthy copies of the AIPL1 gene, contained in a harmless virus, were then injected into the retina, the light-sensitive layer of tissue at the back of the eye.
'The effect of that is to kick start, if you like, the sensitivity of the retina,' Prof Bainbridge added.
'And the expectation is that that might have some benefit to their sight within a few weeks or months, and indeed we were delighted to see that that was indeed the case.'
The gene therapy was only administered into one eye per patient to overcome any potential safety issues.
Given the rarity of LCA, patients were found outside the UK, with families travelling to London from the US, Turkey and Tunisia.
'This particular condition is really very rare,' Prof Bainbridge said.
'And so we were able to extend the possibility of treatment globally, and the first families who approached us with children eligible happened to be from outside the UK.
'The hope is this treatment will become available to children in the UK and elsewhere as a licensed treatment.'
The children were followed up over several years to determine the long-term effect of the therapy.
Researchers used a number of ways to assess the children's sight, including reading letters and using scans of the eye to judge the preservation of cells in the retina.
'The parents were delighted, frankly, to see that the sight of the treated eye improved so substantially,' Prof Bainbridge told PA.
'They were very relieved and very positive about the findings.
'The parents describe the children gaining confidence in terms of their mobility, their independence, their ability to find their way around, also in terms of their recognition of shapes and faces and images.
'Some children are even able to read and write following the intervention which is something that one would absolutely not expect in this condition, untreated.'
Brendan and DJ, who did not wish to share their surname, travelled from Connecticut in the US for the treatment in September 2020.
Their son Jace, who is now six, was around two when he had the procedure.
Jace's mother DJ told PA it has been 'amazing to watch him'.
She added: 'There's such a need to amplify how this treatment has been working, because we think about all the other parents that are sitting there with their five-month-old scared out of their mind about what their future is going to look like.
'We were so lucky to have been able to have this option available to us and to Jace.'
UCL developed the treatment using a manufacturer's special licence, granted by the Medicines and Healthcare Regulatory Agency (MHRA), which allows the production of unlicensed medicines for special clinical needs.
It was supported by clinical stage gene therapy company MeiraGTx.
After the procedures, the children were seen at the NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust's clinical research facility.
Prof Bainbridge told PA it is hoped the therapy will be made more widely available in the UK and beyond, and will eventually be used to treat both eyes.
'The findings provide confidence that this particular approach can be helpful in even a severe condition,' he said.
'And of course, the hope is that the same approach might be helpful for children with more common conditions in the future.
'A similar gene therapy has been available for a similar form of genetic blindness on the NHS in the UK for some five years, but the findings of this particular treatment indicate that the same approach can work for a condition which is even more severe.
'The expectation and the hope is that that will be available to children for treatment in both eyes.'
Since the initial treatments were administered, a further seven patients have been treated at Evelina London Children's Hospital by specialists from St Thomas' Hospital, Great Ormond Street and Moorfields.
Professor Michel Michaelides, a consultant retinal specialist at Moorfields and professor of ophthalmology at the UCL Institute of Ophthalmology, said: 'We have, for the first time, an effective treatment for the most severe form of childhood blindness, and a potential paradigm shift to treatment at the earliest stages of the disease.
'The outcomes for these children are hugely impressive and show the power of gene therapy to change lives.'
A research paper published in the Lancet has outlined the findings from the trial.
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Telegraph
21-02-2025
- Telegraph
Watch: Blind children see for first time after British medical breakthrough
Children who were blind at birth can now see after British doctors successfully administered pioneering gene therapy in a world first. The 'spectacular' breakthrough at Moorfields Eye Hospital is the first effective treatment for the most severe form of childhood blindness. The children, who suffer from an extremely rare genetic condition, can now see shapes, find toys, recognise faces, and in some cases, can even read and write. The procedure, which takes around an hour, involves injecting healthy copies of the affected gene into the back of one eye to 'kick-start' sensitivity. Specialists hope the procedure can be made more widely available in the UK and elsewhere as a licensed treatment. The four children were picked by specialists from Moorfields and UCL Institute of Ophthalmology in 2020. All had severe retinal dystrophy known as leber congenital amaurosis (LCA), an inherited condition that causes vision loss due to a defect in the AIPL1 gene. This gene is important for the function of photoreceptors, light-sensing cells in the retina that convert light into electrical signals that the brain interprets as vision. 'Power of gene therapy to change lives' Prof Michel Michaelides, a consultant retinal specialist at Moorfields and professor of ophthalmology at the UCL Institute of Ophthalmology, said: 'We have, for the first time, an effective treatment for the most severe form of childhood blindness, and a potential paradigm shift to treatment at the earliest stages of the disease. 'The outcomes for these children are hugely impressive and show the power of gene therapy to change lives.' A research paper published in the Lancet has outlined the findings from the trial. Prof James Bainbridge, consultant retinal surgeon at Moorfields and professor of retinal studies at the UCL Institute of Ophthalmology, said those born with the condition could barely see from birth. 'Typically, they can only distinguish light and dark, and that little sight they will lose within the first few years of life. So what we found is that by providing the gene to their eyes that's otherwise lacking, we can substantially improve their sight, and this appears to have a positive impact on their general development.' The operations were carried out at Great Ormond Street Hospital in London, with medics performing keyhole surgery on patients aged between one and two to access the eye. Healthy copies of the AIPL1 gene, contained in a harmless virus, were then injected into the retina, the light-sensitive layer of tissue at the back of the eye. 'The effect of that is to kick-start, if you like, the sensitivity of the retina,' Prof Bainbridge said. 'The expectation is that that might have some benefit to their sight within a few weeks or months, and indeed we were delighted to see that that was indeed the case.' The gene therapy was only administered into one eye per patient to overcome any potential safety issues. Given the rarity of LCA, patients had to be found outside the UK, with families travelling to London from the US, Turkey and Tunisia. 'This particular condition is really very rare,' Prof Bainbridge said. 'And so we were able to extend the possibility of treatment globally, and the first families who approached us with children eligible happened to be from outside the UK.' The children were followed up over the next four years to determine the long-term effect of the therapy. Researchers used a number of ways to assess the children's sight, including reading letters and using scans of the eye to judge the preservation of cells in the retina. 'The parents were delighted, frankly, to see that the sight of the treated eye improved so substantially,' Prof Bainbridge said. 'They were very relieved and very positive about the findings. 'The parents describe the children gaining confidence in terms of their mobility, their independence, their ability to find their way around, also in terms of their recognition of shapes and faces and images. 'Some children are even able to read and write following the intervention which is something that one would absolutely not expect in this condition, untreated.' Brendan and DJ, who did not wish to share their surname, travelled from Connecticut in the US so their son, Jace, could have the treatment in September 2020. Jace was around two when he had the procedure. Jace's mother DJ said: 'After the operation, [he] was immediately spinning, dancing and making the nurses laugh. He started to respond to the TV and phone within a few weeks of surgery and, within six months, he could recognise and name his favourite cars from several metres away; it took his brain time, though, to process what he could now see. 'Sleep can be difficult for children with sight loss, but he falls asleep much more easily now, making bedtimes an enjoyable experience.' Jace's father, Brendan, said that the results were 'nothing short of spectacular'. Since the initial treatments were administered, a further seven patients have been treated at Evelina London Children's Hospital by specialists from St Thomas' Hospital, Great Ormond Street and Moorfields. They include Harvey Haines who struggled to interact with other children, before surgery, when he was three. His parents Jess and Brad said the operations had transformed his life – the previously withdrawn little boy now happily plays with his older sister and other children. His mother Jess, from Australia, said: 'That's really exciting to see, to see him building those friendships.' UCL developed the treatment using a manufacturer's special licence, granted by the Medicines and Healthcare Regulatory Agency (MHRA), which allows the production of unlicensed medicines for special clinical needs. It was supported by clinical stage gene therapy company MeiraGTx. Researchers said the new findings offer hope that children affected by both rare and more common forms of genetic blindness may in time also benefit from genetic medicine. The team is now exploring the means to make this new treatment more widely available. Prof Bainbridge said: 'The findings provide confidence that this particular approach can be helpful in even a severe condition. 'And of course, the hope is that the same approach might be helpful for children with more common conditions in the future. 'A similar gene therapy has been available for a similar form of genetic blindness on the NHS in the UK for some five years, but the findings of this particular treatment indicate that the same approach can work for a condition which is even more severe. 'The expectation and the hope is that that will be available to children for treatment in both eyes.'
The Independent
21-02-2025
- The Independent
Medics preserve sight in children with rare genetic eye condition in world first
Medics in the UK have become the first in the world to successfully administer a pioneering gene therapy that preserves sight in young children with an extremely rare genetic condition that usually causes blindness in the first few years of life. The patients, who were essentially blind at birth, can now see shapes, find toys, recognise faces, and in some cases, can even read and write. The procedure, which takes around an hour, involves injecting healthy copies of the affected gene into the back of one eye to 'kick start' sensitivity. The condition is so rare that the first children to have the therapy were selected from overseas. Specialists hope it can be made more widely available in the UK and elsewhere as a licensed treatment. Four children were selected for the gene therapy by specialists from Moorfields Eye Hospital and UCL Institute of Ophthalmology in 2020. All had severe retinal dystrophy known as leber congenital amaurosis (LCA), an inherited condition that causes vision loss due to a defect in the AIPL1 gene. This gene is important for the function of photoreceptors, light-sensing cells in the retina that convert light into electrical signals that the brain interprets as vision. Professor James Bainbridge, consultant retinal surgeon at Moorfields Eye Hospital and professor of retinal studies at UCL Institute of Ophthalmology, told the PA news agency: 'Typically, they can only distinguish light and dark, and that little sight they will lose within the first few years of life. 'So what we found is that by providing the gene to their eyes that's otherwise lacking, we can substantially improve their sight, and this appears to have a positive impact on their general development.' The operations were carried out at Great Ormond Street Hospital in London, with medics performing keyhole surgery on patients aged between one and two to access the eye. Healthy copies of the AIPL1 gene, contained in a harmless virus, were then injected into the retina, the light-sensitive layer of tissue at the back of the eye. 'The effect of that is to kick start, if you like, the sensitivity of the retina,' Prof Bainbridge added. 'And the expectation is that that might have some benefit to their sight within a few weeks or months, and indeed we were delighted to see that that was indeed the case.' The gene therapy was only administered into one eye per patient to overcome any potential safety issues. Given the rarity of LCA, patients were found outside the UK, with families travelling to London from the US, Turkey and Tunisia. 'This particular condition is really very rare,' Prof Bainbridge said. 'And so we were able to extend the possibility of treatment globally, and the first families who approached us with children eligible happened to be from outside the UK. 'The hope is this treatment will become available to children in the UK and elsewhere as a licensed treatment.' The children were followed up over several years to determine the long-term effect of the therapy. Researchers used a number of ways to assess the children's sight, including reading letters and using scans of the eye to judge the preservation of cells in the retina. 'The parents were delighted, frankly, to see that the sight of the treated eye improved so substantially,' Prof Bainbridge told PA. 'They were very relieved and very positive about the findings. 'The parents describe the children gaining confidence in terms of their mobility, their independence, their ability to find their way around, also in terms of their recognition of shapes and faces and images. 'Some children are even able to read and write following the intervention which is something that one would absolutely not expect in this condition, untreated.' Brendan and DJ, who did not wish to share their surname, travelled from Connecticut in the US for the treatment in September 2020. Their son Jace, who is now six, was around two when he had the procedure. Jace's mother DJ told PA it has been 'amazing to watch him'. She added: 'There's such a need to amplify how this treatment has been working, because we think about all the other parents that are sitting there with their five-month-old scared out of their mind about what their future is going to look like. 'We were so lucky to have been able to have this option available to us and to Jace.' UCL developed the treatment using a manufacturer's special licence, granted by the Medicines and Healthcare Regulatory Agency (MHRA), which allows the production of unlicensed medicines for special clinical needs. It was supported by clinical stage gene therapy company MeiraGTx. After the procedures, the children were seen at the NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust's clinical research facility. Prof Bainbridge told PA it is hoped the therapy will be made more widely available in the UK and beyond, and will eventually be used to treat both eyes. 'The findings provide confidence that this particular approach can be helpful in even a severe condition,' he said. 'And of course, the hope is that the same approach might be helpful for children with more common conditions in the future. 'A similar gene therapy has been available for a similar form of genetic blindness on the NHS in the UK for some five years, but the findings of this particular treatment indicate that the same approach can work for a condition which is even more severe. 'The expectation and the hope is that that will be available to children for treatment in both eyes.' Since the initial treatments were administered, a further seven patients have been treated at Evelina London Children's Hospital by specialists from St Thomas' Hospital, Great Ormond Street and Moorfields. Professor Michel Michaelides, a consultant retinal specialist at Moorfields and professor of ophthalmology at the UCL Institute of Ophthalmology, said: 'We have, for the first time, an effective treatment for the most severe form of childhood blindness, and a potential paradigm shift to treatment at the earliest stages of the disease. 'The outcomes for these children are hugely impressive and show the power of gene therapy to change lives.' A research paper published in the Lancet has outlined the findings from the trial.
The Independent
21-02-2025
- The Independent
Parents of boy with rare eye condition hail ‘amazing' results of gene therapy
A couple whose son was among one of the first patients in the world to receive an innovative treatment for a rare genetic condition that causes blindness has said he can now pick small things up off the floor and identify toys from a distance. Jace, from Connecticut, USA, was diagnosed with leber congenital amaurosis type 4 (LCA4) – a rare inherited eye disease that causes blindness – when he was just a baby. He was selected for the pioneering gene therapy after his parents had a 'chance encounter' with the UK specialist involved in the trial. His parents Brendan and DJ, who did not wish to share their surname, said the results have been 'pretty amazing'. Jace, now six, was one of four children selected to have the treatment by specialists from Moorfields Eye Hospital and UCL Institute of Ophthalmology. Doctors performed keyhole surgery and injected healthy copies of the affected gene into the retina, the light-sensitive layer of tissue at the back of the eye. Three to four years on, vision in the treated eyes has 'improved substantially', according to findings now published in The Lancet. Jace's mum DJ, 35, told the PA news agency: 'Pre-surgery, at around two years old, you could have held up any object, even a couple of inches away from Jace's face, and he would not be able to track it. 'It didn't matter how bright it was, what colour it was, what shape it was. 'And now we get calls and notes home from school that he's stealing phones out of teachers' back pockets, which is hysterical to us. 'Probably not the best thing to be happening in school, but it just goes to show how much growth he's had in his visual abilities over the past four years. 'And that's unheard of with LCA4 – you don't progress to having more vision naturally. 'It's a progression of losing it before the age of four years old. So it's amazing to watch him.' Dad Brendan, 36, added: 'He's picking up small things off the floor. He's calling out toys. 'He's doing things that are really driven by his sight, that never would have, in our opinion, had been done before or would have been done. 'We can hold up our phone, for example, and he'll tell us, this is our phone from a good distance away. Or hold up a toy, and he can tell us what toy it is. 'If he drops something when he's eating, even if it's the smallest thing, like a Cheerio, or a gummy bear, or whatever it may be, he's able to find it on the tile or on the carpet and pick it up. 'We try to get him to not eat it, but he picks it up, I guess that's a treat for him if he can find it. It's fine with us. It's pretty amazing.' DJ added that the family feels 'lucky' to have been given the opportunity for treatment. 'There's such a need to amplify how this treatment has been working because we think about all the other parents that are sitting there with their five-month-old scared out of their mind about what their future is going to look like,' she said. 'We were so lucky to have been able to have this option available to us and to Jace. 'No parent wants to not do as much as humanly possible for their child. 'So yes, it's giving the gift of sight to these children, but it's also giving the ability for other parents to be able to make this decision for their child by making the treatment more mainstreamed and available to the masses.' DJ suspected something was not right with her son when he was eight weeks old and he was not looking at her and smiling. His eyes would dart around and roll, which the couple later found out was nystagmus, a condition that causes involuntary eye movements. DJ said being selected for the treatment felt 'very fortuitous'. She told PA the couple had a 'chance encounter' with Professor Michel Michaelides, a consultant retinal specialist at Moorfields Eye Hospital and professor of ophthalmology at the UCL Institute of Ophthalmology, at a conference about two months before their son was formally diagnosed with LCA4. 'We knew he had LCA, we didn't know his gene variant,' she added. 'Michel was speaking at this LCA family conference in Philadelphia, and we got his contact information on the off chance that Jace would have had a version of LCA that he and his team were researching. 'Hearing the genetic diagnosis of LCA and knowing this is the exact version that Dr Michaelides and Bainbridge and their whole team at Moorfields were researching, there was almost an excitement in the room when his results were being read. 'We started the conversations almost immediately after getting his report, and we're in constant contact with the Moorfields team ever since.' The family travelled to London in September 2020, during the Covid-19 pandemic, and quarantined for two weeks in hospital housing. 'Jace's surgery was the last day in September of 2020,' DJ said. 'He went in happy as a clam, the staff was amazing in keeping him well rested and entertained, and Brendan and myself too. 'The surgery was pretty quick. He was only under for about an hour. He has four little, kind of, I won't even call them scars, just really like pinpoints, in his eye from where they actually injected the gene therapy. 'And he came out of surgery dancing, singing, making all the nursing staff laugh. He was happy to be eating afterwards and back in our arms. 'His recovery, other than having to tolerate an eye patch for a couple of days and some drops that he didn't really like, it was pretty easy.' Brendan said he noticed a difference within the first month when his son reacted to the sun shining through a window. 'He kind of pulled himself back,' he said. 'It wasn't just even an eye shut, it was more of a physical reaction. 'And I remember welling up and getting really emotional because that was the first time that Jace ever had any reaction to any sort of light stimulus or anything of the sort. 'From there, it's been pretty amazing.' It is not yet known if the gene therapy will have a permanent impact on Jace's vision. DJ said: 'We've been prepped that at some point nature kind of takes over the way that nature intended. 'I think we don't expect this to be the treatment that gets him through the rest of his life, there's always going to be changes likely in his vision, but at a certain point, too technology is getting better every single day. 'Just being able to have more children treated through this genetic therapy is going to help to give more context to what's happening within the LCA4 community. 'And our hope is that this treatment becomes more mainstreamed, and maybe if he does start to lose his vision down the road if he has a retina that's still intact, maybe there is the option for retreatment down the road. 'But this first step was huge in being able to make that a reality.'
